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Article

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

Human mutation - 1 Sept 2008

Chouery Eliane, Delague Valérie, Bergougnoux Anne, Koussa Salam, Serre Jean-Louis, Mégarbané André

Abstract excerpt

A genome-wide screen using 382 STR markers to localize and identify the gene implicated in early-onset dementia (EOD) without bone cysts in a Lebanese family with three affected subjects was conducted. A unique locus homozygous by descent at chromosome 6p21.2 locus was identified. Candidate genes were explored by fluorescent sequencing and the effect of the identified mutation was confirmed by qualitative and...

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Source

Identifiers

PMID: 18546367
DOI: 10.1002/humu.20836

Genes

TREM2
CCL2
BCL3
NEDD9
NFKBIA
SPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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